PMID- 12456204
OWN - NLM
STAT- MEDLINE
DCOM- 20030109
LR  - 20210527
IS  - 0003-9985 (Print)
IS  - 0003-9985 (Linking)
VI  - 126
IP  - 12
DP  - 2002 Dec
TI  - Proficiency testing for laboratories performing fluorescence in situ 
      hybridization with chromosome-specific DNA probes.
PG  - 1458-62
AB  - OBJECTIVE: To assess laboratory performance, use, and limitations in the joint 
      College of American Pathologists and American College of Medical Genetics 
      proficiency testing program for laboratories performing cytogenetic tests based 
      on fluorescence in situ hybridization (FISH). DATA SOURCES: Eight proficiency 
      surveys dealing with FISH detection of microdeletions or microduplications, 
      aneuploidy in interphase cells, gene amplification, and neoplasm-specific 
      translocations. Participating laboratories used their own DNA probes (commercial 
      or home-brew), hybridization methods, and analytic criteria to answer clinical 
      questions about cases represented by slides included in the survey materials. 
      They also described their test results according to the International System for 
      Human Cytogenetic Nomenclature (ISCN) and answered supplementary questions 
      relating to their experience with the subject test systems. DATA EXTRACTION: In 
      addition to evaluating diagnostic accuracy, we evaluated survey use, laboratory 
      experience, variation in methodologic approach, and the practicality of using 
      ISCN nomenclature for describing test results. SYNTHESIS AND CONCLUSIONS: With 
      the exception of one challenge, at least 80% of the participants reached the 
      correct diagnostic conclusion. In the sole exception, there was still a consensus 
      of 91.7% of participants with the same (albeit erroneous) diagnostic conclusion. 
      The overall outstanding performance of participating laboratories clearly shows 
      the reliability of current FISH methods. Despite the fact that a large number of 
      laboratories reported little or no experience with the specific test systems, the 
      overwhelming majority performed very well. This result shows that the program's 
      strategy of targeting classes of abnormalities (vs a single abnormality 
      associated with a specific disease) did not put at a disadvantage participants 
      who did not routinely perform all of the potential tests in the class. The 
      extraordinary variation in ISCN descriptions submitted by participants showed 
      that the existing system for human cytogenetic nomenclature is not suitable for 
      facile communication of FISH test results.
FAU - Mascarello, James T
AU  - Mascarello JT
AD  - Genetic Services, Children's Hospital, San Diego, Calif 92123, USA. 
      jmascarello@chsd.org
FAU - Brothman, Arthur R
AU  - Brothman AR
FAU - Davison, Keri
AU  - Davison K
FAU - Dewald, Gordon W
AU  - Dewald GW
FAU - Herrman, Marille
AU  - Herrman M
FAU - McCandless, Danette
AU  - McCandless D
FAU - Park, Jonathan P
AU  - Park JP
FAU - Persons, Diane L
AU  - Persons DL
FAU - Rao, Kathleen W
AU  - Rao KW
FAU - Schneider, Nancy R
AU  - Schneider NR
FAU - Vance, Gail H
AU  - Vance GH
FAU - Cooley, Linda D
AU  - Cooley LD
CN  - Cytogenetics Resource Committee of the College of American Pathologists and 
      American College of Medical Genetics
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Arch Pathol Lab Med
JT  - Archives of pathology & laboratory medicine
JID - 7607091
RN  - 0 (DNA Probes)
SB  - IM
MH  - Chromosome Aberrations
MH  - *DNA Probes
MH  - Genes, erbB-2
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*standards
MH  - Laboratories/*standards
MH  - Quality Control
EDAT- 2002/11/29 04:00
MHDA- 2003/01/10 04:00
CRDT- 2002/11/29 04:00
PHST- 2002/11/29 04:00 [pubmed]
PHST- 2003/01/10 04:00 [medline]
PHST- 2002/11/29 04:00 [entrez]
AID - 10.5858/2002-126-1458-PTFLPF [doi]
PST - ppublish
SO  - Arch Pathol Lab Med. 2002 Dec;126(12):1458-62. doi: 10.5858/2002-126-1458-PTFLPF.